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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/187600
http://purl.bioontology.org/ontology/OMIM/187600
|
|---|---|
| Preferred Name | THANATOPHORIC DYSPLASIA, TYPE I |
| Synonyms |
THANATOPHORIC DYSPLASIA
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE
TD1
TD
THANATOPHORIC DWARFISM
LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
THANATOPHORIC DYSPLASIA
PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, SAN DIEGO TYPE
TD1
TD
THANATOPHORIC DWARFISM
LETHAL SHORT-LIMBED PLATYSPONDYLIC DWARFISM, SAN DIEGO TYPE
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|
|---|---|
| prefLabel |
THANATOPHORIC DYSPLASIA, TYPE I
|
| Gene Symbol |
ACH
FGFR3
|
| notation |
187600
|
| Scope Statement |
Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0005) [MOLECULAR BASIS]
Death in majority of infants soon after birth [MISCELLANEOUS]
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| OMIM MimType Value |
pound
|
| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type |
3
|
| Moved from |
270230
|
| type | |
| Has manifestation |
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|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
| Gene Locus |
4p16.3
|
| tui |
T047
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| cui |
C1868678
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